PCSK9-Gen
Das PCSK9-Gen kodiert ein Protein, welches für die Regulation der LDL-Rezeptoraktivität mitverantwortlich ist. Mutationen verursachen eine autosomal dominante Form der familiären Hypercholesterinämie.
Genstruktur
Das Protein, welches durch das PCSK9-Gen kodiert wird spielt eine wichtige Rolle bei der Regulation des LDL-Rezeptors auf der Oberfläche von Hepatozyten. Mutationen führen zur autosomal dominanten Hypercholesterinämie vom Typ 3.
Gentests:
Klinisch |
Untersuchungsmethoden |
Familienuntersuchung |
Bearbeitungszeit |
5 Tage |
Probentyp |
genomische DNS |
Verknüpfte Erkrankungen:
Referenzen:
1. |
Kathiresan S et al. (2008) Polymorphisms associated with cholesterol and risk of cardiovascular events.
|
2. |
Kotowski IK et al. (2006) A spectrum of PCSK9 alleles contributes to plasma levels of low-density lipoprotein cholesterol.
|
3. |
Rashid S et al. (2005) Decreased plasma cholesterol and hypersensitivity to statins in mice lacking Pcsk9.
|
4. |
Sun XM et al. (2005) Evidence for effect of mutant PCSK9 on apolipoprotein B secretion as the cause of unusually severe dominant hypercholesterolaemia.
|
5. |
Maxwell KN et al. (2005) Overexpression of PCSK9 accelerates the degradation of the LDLR in a post-endoplasmic reticulum compartment.
|
6. |
Park SW et al. (2004) Post-transcriptional regulation of low density lipoprotein receptor protein by proprotein convertase subtilisin/kexin type 9a in mouse liver.
|
7. |
Ouguerram K et al. (2004) Apolipoprotein B100 metabolism in autosomal-dominant hypercholesterolemia related to mutations in PCSK9.
|
8. |
Maxwell KN et al. (2004) Adenoviral-mediated expression of Pcsk9 in mice results in a low-density lipoprotein receptor knockout phenotype.
|
9. |
Shioji K et al. (2004) Genetic variants in PCSK9 affect the cholesterol level in Japanese.
|
10. |
Seidah NG et al. (2003) The secretory proprotein convertase neural apoptosis-regulated convertase 1 (NARC-1): liver regeneration and neuronal differentiation.
|
11. |
Cohen J et al. (2005) Low LDL cholesterol in individuals of African descent resulting from frequent nonsense mutations in PCSK9.
|
12. |
Timms KM et al. (2004) A mutation in PCSK9 causing autosomal-dominant hypercholesterolemia in a Utah pedigree.
|
13. |
Abifadel M et al. (2003) Mutations in PCSK9 cause autosomal dominant hypercholesterolemia.
|
14. |
Hunt SC et al. (2000) Genetic localization to chromosome 1p32 of the third locus for familial hypercholesterolemia in a Utah kindred.
|
15. |
Varret M et al. (1999) A third major locus for autosomal dominant hypercholesterolemia maps to 1p34.1-p32.
|
16. |
Kathiresan S et al. (2008) A PCSK9 missense variant associated with a reduced risk of early-onset myocardial infarction.
|
17. |
Schmidt RJ et al. (2008) Secreted proprotein convertase subtilisin/kexin type 9 reduces both hepatic and extrahepatic low-density lipoprotein receptors in vivo.
|
18. |
Kwon HJ et al. (2008) Molecular basis for LDL receptor recognition by PCSK9.
|
19. |
Mayne J et al. (2007) Plasma PCSK9 levels correlate with cholesterol in men but not in women.
|
20. |
Benjannet S et al. (2006) The proprotein convertase (PC) PCSK9 is inactivated by furin and/or PC5/6A: functional consequences of natural mutations and post-translational modifications.
|
21. |
Zhao Z et al. (2006) Molecular characterization of loss-of-function mutations in PCSK9 and identification of a compound heterozygote.
|
22. |
Lambert G et al. (2006) Fasting induces hyperlipidemia in mice overexpressing proprotein convertase subtilisin kexin type 9: lack of modulation of very-low-density lipoprotein hepatic output by the low-density lipoprotein receptor.
|
23. |
Cohen JC et al. (2006) Sequence variations in PCSK9, low LDL, and protection against coronary heart disease.
|
24. |
Teslovich TM et al. (2010) Biological, clinical and population relevance of 95 loci for blood lipids.
|
25. |
NCBI article
NCBI 255738
|
26. |
OMIM.ORG article
Omim 607786
|
27. |
Orphanet article
Orphanet ID 124137
|
28. |
Wikipedia Artikel
Wikipedia DE (PCSK9)
|
Update: 14. August 2020